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GWAS Diversity Monitor

Definition
AI-generated

The GWAS Diversity Monitor is a public tracker that summarizes the ancestral composition of published genome-wide association studies by disease and field, quantifying how discovery remains skewed toward European-ancestry participants and highlighting progress over time.

Why it matters in GWAS

It makes underrepresentation visible at scale, informs funding and cohort priorities, and contextualizes trans-ancestry replication and polygenic score limitations when base GWAS lack diversity.

Example usage

"We cited the GWAS Diversity Monitor to justify prioritizing replication in African ancestry samples for this trait category."

References

  • Mills MC, Rahal C. (2020). The GWAS diversity monitor tracks diversity by disease in real time. Nat Genet.
  • Kuchenbaecker K, Navoly G. (2026). Ancestral diversity in complex disease genetics: from discovery to translation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00921-3

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